Canonical Allele Identifier: CA5375262
Community Standard Title: NM_024757.5(EHMT1):c.3329C>T (p.Ser1110Phe)
Gene: EHMT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137816017C>T , CM000671.2:g.137816017C>T GRCh38
NC_000009.11:g.140710469C>T , CM000671.1:g.140710469C>T GRCh37
NC_000009.10:g.139830290C>T NCBI36
NG_011776.1:g.202026C>T

Transcript Alleles

HGVS Amino-acid Change
NM_024757.5:c.3329C>T MANE Select NP_079033.4:p.Ser1110Phe
ENST00000460843.6:c.3329C>T MANE Select ENSP00000417980.1:p.Ser1110Phe
NM_001354263.1:c.3308C>T NP_001341192.1:p.Ser1103Phe
NM_001354263.2:c.3308C>T NP_001341192.1:p.Ser1103Phe
NM_024757.4:c.3329C>T NP_079033.4:p.Ser1110Phe
ENST00000460843.5:c.3329C>T ENSP00000417980.1:p.Ser1110Phe
ENST00000462942.3:c.2186C>T ENSP00000436107.1:p.Ser729Phe
ENST00000494249.5:n.682C>T
ENST00000635741.1:n.18C>T
ENST00000637161.1:c.3236C>T ENSP00000490328.1:p.Ser1079Phe
ENST00000637261.1:c.3369C>T ENSP00000490815.1:n.3369C>T
ENST00000637748.1:n.266C>T
ENST00000637891.1:c.1403C>T ENSP00000490907.1:n.1403C>T
XM_005266105.3:c.3320C>T XP_005266162.1:p.Ser1107Phe
XM_005266105.5:c.3320C>T XP_005266162.1:p.Ser1107Phe
XM_005266110.1:c.3236C>T XP_005266167.1:p.Ser1079Phe
XM_006717288.2:c.3311C>T XP_006717351.1:p.Ser1104Phe
XM_011519021.1:c.3338C>T XP_011517323.1:p.Ser1113Phe
XM_011519021.3:c.3338C>T XP_011517323.1:p.Ser1113Phe
XM_011519022.1:c.3335C>T XP_011517324.1:p.Ser1112Phe
XM_011519022.3:c.3335C>T XP_011517324.1:p.Ser1112Phe
XM_011519023.1:c.3317C>T XP_011517325.1:p.Ser1106Phe
XM_011519023.3:c.3317C>T XP_011517325.1:p.Ser1106Phe
XM_011519024.1:c.3260C>T XP_011517326.1:p.Ser1087Phe
XM_011519025.1:c.3236C>T XP_011517327.1:p.Ser1079Phe
XM_011519026.1:c.3194C>T XP_011517328.1:p.Ser1065Phe
XM_011519029.1:c.1760C>T XP_011517331.1:p.Ser587Phe
XM_011519029.3:c.1760C>T XP_011517331.1:p.Ser587Phe
XM_011519030.1:c.1112C>T XP_011517332.1:p.Ser371Phe
XM_011519030.3:c.1112C>T XP_011517332.1:p.Ser371Phe
XM_011519031.1:c.899C>T XP_011517333.1:p.Ser300Phe
XM_011519032.1:c.899C>T XP_011517334.1:p.Ser300Phe
XM_011519033.1:c.3173C>T XP_011517335.1:p.Ser1058Phe
XM_017015134.1:c.3314C>T XP_016870623.1:p.Ser1105Phe
XM_017015136.2:c.3230C>T XP_016870625.1:p.Ser1077Phe
XM_017015137.1:c.3215C>T XP_016870626.1:p.Ser1072Phe
XM_017015138.1:c.3215C>T XP_016870627.1:p.Ser1072Phe
XM_024447674.1:c.3158C>T XP_024303442.1:p.Ser1053Phe
XM_024447675.1:c.3092C>T XP_024303443.1:p.Ser1031Phe
XM_024447676.1:c.2453C>T XP_024303444.1:p.Ser818Phe
XM_024447677.1:c.2453C>T XP_024303445.1:p.Ser818Phe
XM_024447680.1:c.3071C>T XP_024303448.1:p.Ser1024Phe
XR_930459.1:n.5297-1455G>A